Conference 2021 Live Talk


Talk title

Analysis of genetic polymorphisms of PD-1 gene in breast cancer patients


Authors and Affiliations

Sarah Lott Moretto1, Bruna Karina Banin-Hirata1,2, Alberto Yoichi Sakaguchi1, Carolina Batista Ariza2, Nathália de Sousa-Pereira1, Mayara Bocchi-Fernandes1, Matheus Dominato Munuera1, Mariana de Oliveira Pinsetta1, Luiz Henrique Fernandes Spolador1, Caroline Yukari Motoori-Fernandes1, Glauco Akelinghton Freire Vitiello1, Isaura Maria Fuzinatto1, Marla Karine Amarante1, Maria Angelica Ehara Watanabe1

1. State University of Londrina, Department of Pathological Sciences, Londrina, Brazil.
2. Philadelphia University Center, Collegiate of Biomedicine, Londrina, Brazil




Breast cancer comprises a heterogeneous disease that can be classified into different molecular subtypes. The biggest complication of breast carcinoma is invasiveness and metastasis to distant organs, usually associated with shorter patient survival. In this sense, the CXCL12-CXCR4/CXCR7 axis may be closely involved in this process. Within this context, the present study aimed to evaluate the genetic polymorphisms rs1801157 from CXCL12, rs2228014 from CXCR4 and rs4571012 from CXCR7 in 261 patients with breast cancer and 248 cancer-free women and correlate them with clinicopathological parameters.


From the peripheral blood samples collected, DNA extraction was performed using the salting-out technique. This DNA was then subjected to the polymerase chain reaction to amplify the fragment of interest and finally electrophoresis was performed for separation and characterization of the samples.


In this study it was found that the rare allelic variants of the CXCL12 gene rs18001157 and rs2228014 of the CXCR4 gene polymorphisms were associated with a higher risk of breast cancer, while the T allelic variant of the CXCR7 gene polymorphism was associated with protection against disease development. The polymorphisms of CXCL12 and CXCR7 were correlated with clinicopathological parameters with better prognosis, such as smaller tumor size, histopathological grade, positivity for estrogen and progesterone receptors and absence of distant metastasis. On the other hand, the CXCR4 polymorphism was correlated with more advanced TNM staging of the disease.


Such findings contribute to the understanding of the role of the interactions of chemokines with their receptors and may become an alternative therapeutic target in the treatment of breast cancer.